A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions.
Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg
The American Journal of Human Genetics, volume 81 (2007),Â Â
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator